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rs797045789

From SNPedia

ClinVar
Risk rs797045789(ATT;ATT)
Alt rs797045789(ATT;ATT)
Reference rs797045789(CTAATAA;CTAATAA)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene NIPBL
CLNDBN Cornelia de Lange syndrome 1
Reversed 0
HGVS NC_000005.9:g.37064921_37064927delCTAATAAinsATT
CLNSRC
CLNACC RCV000194810.1,